Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Gasteiger, L.
Diagnosis verification of inborn errors of immunity applying clinical criteria using a standardized human phenotype ontology terminology.
Humanmedizin; [ Diplomarbeit ] Graz Medical University; 2020. pp. 194
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- Abstract:
- Background: Rare diseases such as inborn errors of immunity (IEI) may be diagnosed by characteristic clinical and laboratory features, and/or, ideally, genetically confirmed. Because not all patients with IEI have a known monogenic cause of their disease, and to ascertain correct entry into an international patient registry, the European Society for Immunodeficiencies (ESID) published expert-generated and peer-reviewed clinical diagnosis criteria. However, the current version of ESID diagnosis criteria is not using a standardized vocabulary, which would be crucial not only for making the diagnosis but also for the comparability of patient records in registries, for a transferrable phenotypic description of presentations with novel variants, as well as for filtering in bioinformatic steps of modern diagnostic processes such as next-generation sequencing. Therefore, the ESID diagnostic criteria were critically reviewed and revised, and, in the course thereof, a standardized vocabulary in the form of the human phenotype ontology (HPO) was integrated into the diagnostic criteria. Methods: Lists with standardized vocabulary for each of the 75 entities in the ESID diagnosis criteria catalogue were created. For this purpose, different databases were used. Thirty-eight entities were annotated with HPO terms using the HPO-ORDO ontological module (HOOM). The sought data was retrieved using SPARQL and then transferred into Excel sheets. Thirty-four entities altogether were annotated based on data coming from OMIM (Online Mendelian Inheritance in Man). The data was directly retrieved from the HPO webpage and then again transferred into Excel sheets. In the case of three entities, there was no phenotypic information available neither in HOOM nor in OMIM. Therefore the diseases were annotated based on available publications. Results & Conclusion: Altogether, 75 lists with HPO terms were created, one for each entity of the ESID diagnosis criteria, which were then integrated into the criteria. The updated version of the ESID diagnosis criteria with attached HPO terms can be found on the ESID registry website. In the future, it can be envisioned that the selection of appropriate HPO terms for each patient entered into the ESID registry as well as in the course of the annual follow-up becomes obligatory, which would allow longitudinal monitoring of symptoms, lab values, and the disease course. Furthermore enables the use of this standardized vocabulary processing of the data using computer-based algorithms.